title: Another patient with 12q13 microduplication.
abstract: Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf-Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few other recorded patients with deletion 12q13 → 12q21 involved mosaicism. We describe a new patient with homogeneous 12q13 duplication in a 6-year-old girl who, in early infancy, presented with dysmorphic features suggesting Wolf-Hirschhorn syndrome. What is potentially significant about this patient is that her facial phenotype evolved with age, suggesting a different gestalt in older patients.
authors.affiliation: S. Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy. martabertoli@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Bertoli
authors.forename: V
authors.initials: V
authors.lastname: Alesi
authors.forename: F
authors.initials: F
authors.lastname: Gullotta
authors.forename: S
authors.initials: S
authors.lastname: Zampatti
authors.forename: M R
authors.initials: MR
authors.lastname: Abate
authors.forename: C
authors.initials: C
authors.lastname: Palmieri
authors.forename: A
authors.initials: A
authors.lastname: Novelli
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: A M
authors.initials: AM
authors.lastname: Nardone
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D012196:Review Literature as Topic; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics* / Q000473:pathology
keywords: 12q13 duplication; Wolf-Hirschhorn syndrome phenocopy; hyperkeratosis; intellectual disability